Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene

Conxi Lázaro, Antonia Gaona, Anna Ravella, Victor Volpini, Teresa Casals, Juan José Fuentes, Xavier P. Estivill

Research output: Contribution to journalArticle

38 Citations (Scopus)

Abstract

Neurofibromatosis type 1 (NF1) (von Recklinghausen) is a common autosomal dominant disorder, characterised by the presence of peripheral neurofibromas, café-au-lait spots and Lisch nodules of the iris. Due to the high mutation rate at the NF1 locus, most patients are expected to have different mutations, limiting molecular analysis and genetic counseling to the identification of the mutation in each patient or family, or to the use of DNA polymorphisms. We have analysed an Alu-repeat polymorphic sequence (AAAT), located in intron 27 of the NF1 gene, in 70 NF1 and 40 CEPH families and we have detected several genetic and molecular abnormalities. In two families the NF1 individuals were hemizygous at the AAAT-repeat and/or at the CA-repeat of intron 27 of NF1, due to interstitial deletions, which include intron 27 to exon 37 of the NF1 gene. A 71-bp deletion at the Alu sequence was detected in non-NF1 chromosomes of members of three NF1 families. New alleles at the AAAT-repeat were found in one NF1 family and in three CEPH families giving a mutation rate for this AAAT-repeat of 0.36% per allele, which is one of the highest detected for a microsatellite locus.

Original languageEnglish
Pages (from-to)725-730
Number of pages6
JournalHuman Molecular Genetics
Volume2
Issue number6
DOIs
Publication statusPublished - Jun 1993
Externally publishedYes

Fingerprint

Neurofibromatosis 1 Genes
Neurofibromatosis 1
Deletion
Genes
Alleles
Gene
Mutation
Chromosomes
Polymorphism
DNA
Introns
Locus
Mutation Rate
Microsatellites
Nodule
Molecular Biology
Iris
Chromosome
Family
Disorder

ASJC Scopus subject areas

  • Statistics, Probability and Uncertainty
  • Applied Mathematics
  • Public Health, Environmental and Occupational Health
  • Molecular Biology
  • Genetics(clinical)
  • Genetics

Cite this

Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene. / Lázaro, Conxi; Gaona, Antonia; Ravella, Anna; Volpini, Victor; Casals, Teresa; Fuentes, Juan José; Estivill, Xavier P.

In: Human Molecular Genetics, Vol. 2, No. 6, 06.1993, p. 725-730.

Research output: Contribution to journalArticle

Lázaro, Conxi ; Gaona, Antonia ; Ravella, Anna ; Volpini, Victor ; Casals, Teresa ; Fuentes, Juan José ; Estivill, Xavier P. / Novel alleles, hemizygosity and deletions at an Alu-repeat within the neurofibromatosis type 1 (NF1) gene. In: Human Molecular Genetics. 1993 ; Vol. 2, No. 6. pp. 725-730.
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